ORPHA:577
Mucolipidosis type III
Also called Pseudo-Hurler polydystrophy
- Body system
- Bone diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Childhood
- Estimated prevalence
- 1-9 / 1 000 000 (Europe)
- Rarity class
- 1-9 / 1 000 000
ORPHA:577 is classified under "Bone diseases" in the Orphanet nomenclature.
Common signs
- Prominent occiput
- Visual impairment
- Joint stiffness
- Deficiency of N-acetylglucosamine-1-phosphotransferase
- Abnormality of the hip bone
- Abnormal form of the vertebral bodies